Title |
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis
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Published in |
Nephrology Dialysis Transplantation, June 2016
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DOI | 10.1093/ndt/gfw234 |
Pubmed ID | |
Authors |
Paola Romagnani, Sabrina Giglio, Maria Lucia Angelotti, Aldesia Provenzano, Francesca Becherucci, Benedetta Mazzinghi, Susanna Müller, Kerstin Amann, Marc Weidenbusch, Simone Romoli, Elena Lazzeri, Hans-Joachim Anders |
Abstract |
Often the cause of refractory lupus nephritis (RLN) remains unclear. We performed next-generation sequencing for podocyte genes in an RLN patient and identified compound heterozygosity for APOL1 risk alleles G1 and G2 and a novel homozygous c.[1049C>T]+[1049C>T] NPHS1 gene variant of unknown significance. To test for causality renal progenitor cells isolated from urine of this patient were differentiated into podocytes in vitro. Podocytes revealed aberrant nephrin trafficking, cytoskeletal structure and lysosomal leakage, and increased detachment as compared with podocytes isolated from controls. Thus, lupus podocytopathy can be confirmed as a cause of RLN by functional genetics on patient-derived podocytes. |
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Unspecified | 1 | 5% |
Other | 0 | 0% |
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